Alternative sources of valine and isoleucine for prompt reduction of plasma leucine in maple syrup urine disease patients: A case series.

ABSTRACT: In maple syrup urine disease (MSUD), leucine (Leu) accumulation, and its metabolites cause brain toxicity, and at diagnosis rapid plasma Leu reduction is essential. Valine (Val) and isoleucine (Iso) supplements are necessary to promote anabolism and enable prompt reduction of plasma Leu. Val/Iso supplements are unavailable in Iran, so an alternative source was necessary. An emergency protocol was developed using an unconventional source of Val and Iso to prompt reduction of high plasma Leu levels during an acute metabolic crisis to prevent brain encephalopathy and neurological sequelae. Five children with classical MSUD were referred aged 1-25 months, with a prolonged high plasma Leu of more than 1500 μmol/L and acute symptoms (irritability, poor feeding, and hypotonia). Initially, breast

SUBMITTER: Ziadlou M 

PROVIDER: S-EPMC9626667 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature